Incidental Mutation 'IGL02885:Borcs6'
ID362986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Borcs6
Ensembl Gene ENSMUSG00000045176
Gene NameBLOC-1 related complex subunit 6
Synonyms2310047M10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02885
Quality Score
Status
Chromosome11
Chromosomal Location69059717-69061578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69060246 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 150 (D150G)
Ref Sequence ENSEMBL: ENSMUSP00000059143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051888]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051888
AA Change: D150G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059143
Gene: ENSMUSG00000045176
AA Change: D150G

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
low complexity region 144 162 N/A INTRINSIC
low complexity region 173 204 N/A INTRINSIC
Pfam:DUF2365 215 358 1.9e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101007
SMART Domains Protein: ENSMUSP00000098570
Gene: ENSMUSG00000072809

DomainStartEndE-ValueType
low complexity region 31 65 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,063,951 N683S probably benign Het
4930444G20Rik T A 10: 22,067,158 I308F possibly damaging Het
Ahi1 T A 10: 21,055,113 F46I possibly damaging Het
Als2 C T 1: 59,167,491 V1598I probably benign Het
Arid1b A T 17: 5,342,153 D1986V probably damaging Het
Bhlhe41 T A 6: 145,865,263 D2V probably damaging Het
Ccdc88a G T 11: 29,448,050 R261L probably damaging Het
Ccne2 T A 4: 11,198,723 probably benign Het
Cenpk A G 13: 104,249,395 D266G probably damaging Het
Ces2b T C 8: 104,834,931 V219A probably damaging Het
Cpa1 A G 6: 30,645,170 R382G probably damaging Het
Cplx4 G T 18: 65,956,913 T145N probably damaging Het
Cyp19a1 T C 9: 54,171,818 I269V probably benign Het
Dennd3 A G 15: 73,568,696 Y1192C probably benign Het
Dpp6 T C 5: 27,718,473 Y694H probably damaging Het
Eea1 C A 10: 96,041,484 N1353K probably benign Het
Fam111a T A 19: 12,584,124 probably null Het
Fat1 T C 8: 44,989,167 S1169P probably benign Het
Frk G T 10: 34,484,071 A23S probably benign Het
Fyb2 T C 4: 105,003,921 V594A probably damaging Het
Gtpbp3 C A 8: 71,489,420 probably benign Het
Hoxa5 G T 6: 52,202,708 A229D probably damaging Het
Hspb11 G A 4: 107,273,669 C52Y possibly damaging Het
Igf2r A T 17: 12,694,120 F1780L possibly damaging Het
Jade2 A T 11: 51,831,296 D143E probably damaging Het
Kdm1a T C 4: 136,552,535 I719V probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lmx1b G T 2: 33,567,204 Q206K probably benign Het
Lrrtm4 G A 6: 80,021,803 G66D probably damaging Het
Myg1 G T 15: 102,332,159 G90C probably damaging Het
Nbea C T 3: 55,631,986 V2785I probably benign Het
Ncr1 C A 7: 4,338,226 P35Q probably damaging Het
Nos1 T A 5: 117,895,790 C326S probably damaging Het
Olfr410 G T 11: 74,334,693 H179Q possibly damaging Het
Olfr527 T C 7: 140,336,159 F99S possibly damaging Het
Olfr569 A T 7: 102,888,036 V39E possibly damaging Het
Pde4d A G 13: 109,948,261 Y520C probably damaging Het
Ppm1d A G 11: 85,326,944 M178V possibly damaging Het
Samd3 G A 10: 26,271,864 R479K probably benign Het
Serpinb6a A G 13: 33,918,799 V226A probably benign Het
Slc26a4 T C 12: 31,525,476 E737G probably benign Het
Slc34a3 A G 2: 25,231,057 C340R probably damaging Het
Spata31d1b C A 13: 59,719,127 probably benign Het
Trappc12 A G 12: 28,747,014 V173A probably benign Het
Vmn2r66 A T 7: 84,995,515 D562E probably benign Het
Zfp395 C T 14: 65,395,895 P451L probably benign Het
Other mutations in Borcs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02213:Borcs6 APN 11 69059853 missense probably benign
R4624:Borcs6 UTSW 11 69060597 missense probably damaging 1.00
R5207:Borcs6 UTSW 11 69060848 missense probably damaging 1.00
R7514:Borcs6 UTSW 11 69060584 missense probably damaging 1.00
X0062:Borcs6 UTSW 11 69060359 missense probably benign 0.15
Posted On2015-12-18